title: Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome.
abstract: Hearing loss (HL) is one of the most frequent clinical manifestations of patients who suffer with multi-systemic genetic disorders. HL in association with other physical stigmata is referred to as a syndromic form of HL. LEOPARD syndrome (LS) is one of the disorders with syndromic HL and it is caused by a mutation in the PTPN11 or RAF1 gene. In general, 5 year old children who undergo cochlear implantation usually show a marked change in behavior regarding sound detection within the first 6 months of implant use, but word identification may not be exhibited for at least another 6-12 months of implant use. We herein report on a 5-year-old girl with LS. Her clinical manifestations including bilateral sensorineural HL, which indicated the diagnosis of LS. We confirmed the diagnosis by identifying a disease-causing mutation in the PTPN11 gene, which was a heterozygous missense mutation Ala461Thr (c.1381G>A). She underwent cochlear implantation (CI) without complications and she is currently on regular follow-up at postoperative 1 year. This is the first reported case of CI in a patient with LS in the medical literature.
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Ho-Suk
authors.initials: HS
authors.lastname: Chu
authors.forename: Hae-Sun
authors.initials: HS
authors.lastname: Chung
authors.forename: Moon-Hee
authors.initials: MH
authors.lastname: Ko
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Won-Ho
authors.initials: WH
authors.lastname: Chung
authors.forename: Yang-Sun
authors.initials: YS
authors.lastname: Cho
authors.forename: Sung Hwa
authors.initials: SH
authors.lastname: Hong
keywords: Cochlear implantation; LEOPARD syndrome; Mutation